Gene Summary

Name:
protein disulfide isomerase associated 6
Synonyms:
CaBP5,  P5,  1700015E05Rik,  Txndc7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Pdia6tm1b(EUCOMM)Hmgu HET Late adult 0.00
increased total body fat amount Pdia6tm1b(EUCOMM)Hmgu HET   Early adult 1.35×10-05
decreased CD4-positive NK T cell number Pdia6tm1b(EUCOMM)Hmgu HET Late adult 8.20×10-05
enlarged thyroid gland Pdia6tm1b(EUCOMM)Hmgu HET Late adult 0.00
preweaning lethality, complete penetrance Pdia6tm1b(EUCOMM)Hmgu HOM   Early adult 0.000134

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Pdia6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pdia6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Papi... ORPHA:319487
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinoma, Abnor... ORPHA:97290
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter OMIM:180295
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Insulin resistance ORPHA:79087
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Blepharochalasis And Double Lip
Goiter OMIM:109900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Thyroid Lymphoma
Goiter, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy ORPHA:97285
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Increased c... ORPHA:2298
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Anemia, Failure to thrive OMIM:617475
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Decreased body weight,... OMIM:617053
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Glucose intolerance, Decreased proportion of... OMIM:208900
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Bangstad Syndrome
Pancytopenia, Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Lymphadenopat... ORPHA:1332
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Lymphadenopathy, Nodular goiter ORPHA:142
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Exocrine pancreatic i... ORPHA:552
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Neutropenia, B lymphocytopenia, Agammaglobulinemia, Failure... OMIM:601495
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Amed Syndrome, Digenic
Adrenal hypoplasia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thri... OMIM:619151
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating creatinine concentration, Polycystic... ORPHA:275555
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Diabetes mellitus OMIM:614162
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type ... ORPHA:181393
Ataxia-Telangiectasia
Abnormal testis morphology, Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia... ORPHA:100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism ORPHA:705
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hypoglycemia, Failure to thrive ORPHA:67048
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Failure... OMIM:616740
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Failure to thrive, Lymphadenopathy OMIM:618048
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Graves Disease, Susceptibility To, 1
Graves disease, Goiter OMIM:275000
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system OMIM:608404
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Obesity OMIM:605309
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Failure to thrive OMIM:615607
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Neoplasm of the adrenal cortex, Para... ORPHA:163634
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimuation test OMIM:618624
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Leukopenia, Failure to thrive OMIM:229050
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia, Thrombocytopenia, Leukopenia, Anemia, Failure to thr... OMIM:613845
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Pancreatiti... ORPHA:79312
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Recurrent cutaneous... ORPHA:229717
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Anemia, Hypogo... OMIM:604250
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration, Failure to thrive, Hepatome... OMIM:614727
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Failure... OMIM:618963
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent peripheral lymph nodes in presence of infection, Abse... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hepatomegaly, Hypertriglycer... OMIM:617591
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Gaucher Disease, Type Iii
Decreased body weight, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Weight loss, Thrombocytopenia, Hepatomegaly, Abnormal ... ORPHA:3226
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestatio... ORPHA:699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Increased serum interferon-gamma ... ORPHA:540
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Increased circulatin... ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... ORPHA:381
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Neutropeni... ORPHA:525731
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Good Syndrome
Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediast... ORPHA:169105
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 level, Congenital hypothyroidism, Goiter, Elevated circulating thyroid-s... ORPHA:226313
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Congenital Toxoplasmosis
Failure to thrive in infancy, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:858
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Hyperammonemia, Macrocytic anemia ORPHA:27
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Hypothyroidism, Lymphopenia, Abnormal circulating lipid conce... OMIM:616541
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level, Leukopenia, L... ORPHA:83313
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia OMIM:601815
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy ORPHA:69077
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Hypothyroidism, Lymphopenia, Panhypog... ORPHA:84064
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Abdominal obesit... OMIM:615980
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemia, Pancreatitis, Leukopenia... OMIM:251000
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Failure to thrive OMIM:610680
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pa... ORPHA:2348
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Type I diabetes mellitus, Anemia, Splenomegaly ORPHA:290
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceri... OMIM:617575
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Failure to thrive, Lymphadenopathy OMIM:617718
Transaldolase Deficiency
Cirrhosis, Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatosplenome... ORPHA:101028
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Decr... OMIM:613327
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Throm... ORPHA:2686
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive OMIM:230900
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia ORPHA:289916
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Marburg Hemorrhagic Fever
Weight loss, Thrombocytopenia, Jaundice, Leukopenia, Pancreatitis ORPHA:99826
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess ... ORPHA:47
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Sengers Syndrome
Thrombocytopenia OMIM:212350
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Necrotizing Enterocolitis
Peritonitis, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age... ORPHA:391673
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Decre... ORPHA:227990
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Cholestasis, Thrombocytopenia, Hepatomegaly, Hypoalbuminemia, Ane... OMIM:608104
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Lymphopenia, Ovarian carcino... OMIM:158350
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Stormorken-Sjaastad-Langslet Syndrome
Abnormal thrombocyte morphology, Asplenia, Anemia ORPHA:3204
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Propionic Acidemia
Hyperglycinemia, Neutropenia, Hypoglycemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia,... OMIM:606054
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:319218
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia,... OMIM:249270
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Nodular reg... ORPHA:210136
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Thyroidit... ORPHA:99867
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... OMIM:242900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Failure to thrive, Bone marrow hypoc... OMIM:613989
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Whipple Disease
Insulin resistance, Hypothyroidism, Hyponatremia, Hepatomegaly, Cachexia, Anemia, Splenomegaly, M... ORPHA:3452
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the thymus OMIM:243150
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Neoplasm... ORPHA:457059
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Pelger-Huet Anomaly
Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,... OMIM:169400
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Bloom Syndrome
Recurrent tonsillitis, Insulin resistance, Decreased circulating total IgM, Decreased circulating... ORPHA:125
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis,... ORPHA:90970
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency, Reduced natural killer cell count, Hep... OMIM:609981
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Failu... ORPHA:90045
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycys... ORPHA:528
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, Hepatomegaly, Anemia,... ORPHA:47612
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Congenital Hypothyroidism
Goiter, Hypothyroidism, Abnormality of the thyroid gland, Hypogonadism, Thyroid dysgenesis, Anter... ORPHA:442
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Failure to thrive in infancy, Thrombocytopenia, Elevated ... OMIM:610377
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly ORPHA:2123
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, Elevated circulating creatin... ORPHA:230
Smith-Kingsmore Syndrome
Cryptorchidism, Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level, Large for gestat... OMIM:616638
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Weight loss, Thrombocytopenia, Jaundice, Hepatomeg... ORPHA:905
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive ORPHA:2785
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Thrombocytopenia, Anemia, Failure to thrive, Large for gestational age, Bone marrow ... OMIM:614520
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Hypoplastic spleen, Failure to thrive OMIM:602361
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Decreased serum testosterone concentration, Failure to th... OMIM:201100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Neutropenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyperhomocystinemia OMIM:614857
Lig4 Syndrome
Cryptorchidism, Hypothyroidism, Thrombocytopenia, Pancytopenia, Failure to thrive OMIM:606593
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Weight loss, Pancytopenia, Thrombocytopenia, Leukopenia, Anemia, Lymph... ORPHA:520
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:79085
Stt3B-Cdg
Thrombocytopenia, Cryptorchidism, Failure to thrive ORPHA:370924
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Weight loss, Normocytic anemia, Throm... ORPHA:98849
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Stormorken Syndrome
Thrombocytopenia, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Howell-Jo... OMIM:185070
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Jaundice, Hepatic steatosis, Leukopenia ORPHA:99827
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... OMIM:171400
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia, Failure to thrive OMIM:616577
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... OMIM:251110
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Thrombocytopenia, Chronic n... ORPHA:811
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... OMIM:173470
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Splenomegaly... OMIM:606003
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Elevated circulating long chain fatty acid concentration, Intrahepatic biliary dy... OMIM:214110
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice... OMIM:170100
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:435660
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Neutropenia, Thr... OMIM:608233
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Failure t... OMIM:602450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... OMIM:251100
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Decreased specific anti-polysaccharide antibody level, Cholestasis, Pancytopenia, Thro... OMIM:614576
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i... ORPHA:391487
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Abnormality of ... ORPHA:90363
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Cryptorchidism, Failure to thrive OMIM:615597
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Failur... OMIM:277380
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Decreased HDL cholesterol concentration, Insulin resistance, Hepatic stea... ORPHA:280365
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter, Hashimoto thyroiditis OMIM:616858
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly OMIM:246400
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Hepatic steatosis, Nonketotic hypoglycemia, Thrombocytopenia, Elevate... ORPHA:99901
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive OMIM:259700
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Steatorrhea, Pancyto... OMIM:260400
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Abnormality of the pituitary gland, Male hypogonadism, Elevated circ... ORPHA:91347
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymp... ORPHA:90362
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Cryptorchidism, Anemia, Failure to thrive in infancy OMIM:611209
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Macrovesicular hepatic steatosis, Neutropenia, Thrombocytopenia,... OMIM:617303
Avian Influenza
Lymphopenia, Thrombocytopenia, Hepatitis, Hypoalbuminemia, Leukopenia, Elevated circulating C-rea... ORPHA:454836
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypogo... OMIM:615381
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:251290
Bare Lymphocyte Syndrome, Type Ii